A case of severe acidosis in a 12-month-old: Succinyl-CoA:3-ketoacidCoA transferase deficiency with...
A case of severe acidosis in a 12-month-old: Succinyl-CoA:3-ketoacidCoA transferase deficiency with gene mutations
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Publisher
SAGE Publishing
Journal title
Language
English
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Publisher
SAGE Publishing
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Scope and Contents
Contents
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare autosomal recessive disorder that results in severe ketoacidosis due to a defect in ketone utilization. We describe a case of a 12-month-old infant presenting with severe metabolic acidosis, ketosis, and hyperammonemia, a combination of symptoms suggestive of an inborn error of met...
Alternative Titles
Full title
A case of severe acidosis in a 12-month-old: Succinyl-CoA:3-ketoacidCoA transferase deficiency with gene mutations
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TN_cdi_doaj_primary_oai_doaj_org_article_fbf05bc362f4431d888c45680727fa71
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_fbf05bc362f4431d888c45680727fa71
Other Identifiers
E-ISSN
2050-313X
DOI
10.1177/2050313X221111274
